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rs386833706

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833706(A;A)
Make rs386833706(A;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position28477565
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833706
ebirs386833706
HLIrs386833706
Exacrs386833706
Varsomers386833706
Maprs386833706
PheGenIrs386833706
hapmaprs386833706
1000 genomesrs386833706
hgdprs386833706
ensemblrs386833706
gopubmedrs386833706
geneviewrs386833706
scholarrs386833706
googlers386833706
pharmgkbrs386833706
gwascentralrs386833706
openSNPrs386833706
23andMers386833706
23andMe allrs386833706
SNP Nexus

SNPshotrs386833706
SNPdbers386833706
MSV3drs386833706
GWAS Ctlgrs386833706
Max Magnitude0
ClinVar
Risk rs386833706(A,T;A,T)
Alt rs386833706(A,T;A,T)
Reference rs386833706(C;C)
Significance Probable-Pathogenic
Disease Juvenile neuronal ceroid lipofuscinosis
Variation info
Gene CLN3 NPIPB8
CLNDBN Juvenile neuronal ceroid lipofuscinosis
Reversed 1
HGVS NC_000016.9:g.28488886G>T
CLNSRC ClinVar
CLNACC RCV000049667.1,


[PMID 21990111] Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.